ClinVar Miner

Submissions for variant NM_001199753.2(CPT1C):c.2225C>T (p.Thr742Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003751253 SCV004398139 uncertain significance Hereditary spastic paraplegia 73 2023-05-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CPT1C-related conditions. This variant is present in population databases (rs766760821, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 731 of the CPT1C protein (p.Thr731Met).

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